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Protein

CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase

Gene

ST8SIA4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid (PSA), which is present on the embryonic neural cell adhesion molecule (N-CAM), necessary for plasticity of neural cells.

Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei170SubstrateBy similarity1
Active sitei331Proton donor/acceptorBy similarity1

GO - Molecular functioni

  • alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity Source: BHF-UCL
  • sialic acid binding Source: BHF-UCL

GO - Biological processi

  • cellular protein modification process Source: ProtInc
  • ganglioside biosynthetic process Source: BHF-UCL
  • nervous system development Source: ProtInc
  • N-glycan processing Source: BHF-UCL
  • oligosaccharide metabolic process Source: BHF-UCL
  • protein glycosylation Source: BHF-UCL

Keywordsi

Molecular functionGlycosyltransferase, Transferase

Enzyme and pathway databases

BRENDAi2.4.99.8. 2681.
ReactomeiR-HSA-4085001. Sialic acid metabolism.
R-HSA-419037. NCAM1 interactions.
UniPathwayiUPA00378.

Protein family/group databases

CAZyiGT29. Glycosyltransferase Family 29.

Names & Taxonomyi

Protein namesi
Recommended name:
CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase (EC:2.4.99.-)
Alternative name(s):
Alpha-2,8-sialyltransferase 8D
Polysialyltransferase-1
Sialyltransferase 8D
Short name:
SIAT8-D
Sialyltransferase St8Sia IV
Short name:
ST8SiaIV
Gene namesi
Name:ST8SIA4
Synonyms:PST, PST1, SIAT8D
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:10871. ST8SIA4.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 7CytoplasmicSequence analysis7
Transmembranei8 – 20Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST13
Topological domaini21 – 359LumenalSequence analysisAdd BLAST339

GO - Cellular componenti

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi7903.
OpenTargetsiENSG00000113532.
PharmGKBiPA35772.

Polymorphism and mutation databases

DMDMi2494834.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001492931 – 359CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferaseAdd BLAST359

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi50N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi74N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi119N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi142 ↔ 2921 Publication
Disulfide bondi156 ↔ 3561 Publication
Glycosylationi204N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi219N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi327N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ92187.
PaxDbiQ92187.
PeptideAtlasiQ92187.
PRIDEiQ92187.

PTM databases

iPTMnetiQ92187.
PhosphoSitePlusiQ92187.

Expressioni

Tissue specificityi

Highly expressed in fetal brain, lung and kidney and in adult heart, spleen and thymus. Present to a lesser extent in adult brain, placenta, lung, large and small intestine and peripheral blood leukocytes.

Gene expression databases

BgeeiENSG00000113532.
CleanExiHS_ST8SIA4.
ExpressionAtlasiQ92187. baseline and differential.
GenevisibleiQ92187. HS.

Organism-specific databases

HPAiHPA051126.
HPA053995.

Interactioni

Protein-protein interaction databases

BioGridi113636. 65 interactors.
STRINGi9606.ENSP00000231461.

Structurei

3D structure databases

ProteinModelPortaliQ92187.
SMRiQ92187.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni191 – 193Substrate bindingBy similarity3
Regioni279 – 281Substrate bindingBy similarity3
Regioni314 – 315Substrate bindingBy similarity2

Sequence similaritiesi

Belongs to the glycosyltransferase 29 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2692. Eukaryota.
ENOG410XT8P. LUCA.
GeneTreeiENSGT00550000074407.
HOGENOMiHOG000207604.
HOVERGENiHBG056466.
InParanoidiQ92187.
KOiK06614.
OMAiHSVEGWK.
OrthoDBiEOG091G0AL4.
PhylomeDBiQ92187.
TreeFamiTF352820.

Family and domain databases

InterProiView protein in InterPro
IPR001675. Glyco_trans_29.
IPR012163. Sialyl_trans.
PfamiView protein in Pfam
PF00777. Glyco_transf_29. 1 hit.
PIRSFiPIRSF005557. Sialyl_trans. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q92187-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MRSIRKRWTI CTISLLLIFY KTKEIARTEE HQETQLIGDG ELSLSRSLVN
60 70 80 90 100
SSDKIIRKAG SSIFQHNVEG WKINSSLVLE IRKNILRFLD AERDVSVVKS
110 120 130 140 150
SFKPGDVIHY VLDRRRTLNI SHDLHSLLPE VSPMKNRRFK TCAVVGNSGI
160 170 180 190 200
LLDSECGKEI DSHNFVIRCN LAPVVEFAAD VGTKSDFITM NPSVVQRAFG
210 220 230 240 250
GFRNESDREK FVHRLSMLND SVLWIPAFMV KGGEKHVEWV NALILKNKLK
260 270 280 290 300
VRTAYPSLRL IHAVRGYWLT NKVPIKRPST GLLMYTLATR FCDEIHLYGF
310 320 330 340 350
WPFPKDLNGK AVKYHYYDDL KYRYFSNASP HRMPLEFKTL NVLHNRGALK

LTTGKCVKQ
Length:359
Mass (Da):41,295
Last modified:February 1, 1997 - v1
Checksum:iC53FFDF658926D61
GO
Isoform 2 (identifier: Q92187-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     169-359: Missing.

Note: No experimental confirmation available.
Show »
Length:168
Mass (Da):19,260
Checksum:i2B9ED426B1A3C9F2
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0689767R → K1 PublicationCorresponds to variant dbSNP:rs199768560Ensembl.1
Natural variantiVAR_03616992E → G in a colorectal cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_044867169 – 359Missing in isoform 2. 1 PublicationAdd BLAST191

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L41680 mRNA. Translation: AAC41775.1.
AK292872 mRNA. Translation: BAF85561.1.
AC010411 Genomic DNA. No translation available.
AC117530 Genomic DNA. No translation available.
CH471086 Genomic DNA. Translation: EAW49104.1.
CH471086 Genomic DNA. Translation: EAW49105.1.
BC027866 mRNA. Translation: AAH27866.1.
BC053657 mRNA. Translation: AAH53657.1.
CCDSiCCDS4091.1. [Q92187-1]
CCDS47252.1. [Q92187-2]
PIRiI59403.
RefSeqiNP_005659.1. NM_005668.5. [Q92187-1]
NP_778222.1. NM_175052.2. [Q92187-2]
UniGeneiHs.308628.

Genome annotation databases

EnsembliENST00000231461; ENSP00000231461; ENSG00000113532. [Q92187-1]
ENST00000451528; ENSP00000428914; ENSG00000113532. [Q92187-2]
GeneIDi7903.
KEGGihsa:7903.
UCSCiuc003knk.5. human. [Q92187-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

Entry informationi

Entry nameiSIA8D_HUMAN
AccessioniPrimary (citable) accession number: Q92187
Secondary accession number(s): A8KA07
, G3V104, Q8N1F4, Q92693
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: February 1, 1997
Last modified: July 5, 2017
This is version 148 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families